DESCRIPTION (provided by applicant Technology enhancement and Implementation of Michigan Newborn Screening for Severe Combined Immune Deficiency (SCID) and Related Disorders The Michigan Newborn Screening Program (MI-NBS) will begin screening all infants for Severe Combined Immune Deficiency (SCID) and related disorders on October 1, 2011. SCID is the most severe type of primary immunodeficiency. It is a rare and potentially lethal syndrome in which there are profound deficiencies of T and B lymphocytes and natural killer cell function. SCID is a pediatric emergency but early detection and treatment of infants improves survival, consistent with the "Healthy People 2020" objectives to reduce infant and child deaths. Newborn screening using quantitative real-time polymerase chain reaction will measure T cell receptor excision circles (TRECs) from dried blood spots to estimate naive T cells. Infants with SCID or related disorders have very low TREC values. It is expected that in Michigan there will be approximately 80 infants with abnormal TREC values per year with 16-28 infants being immune deficient and 4-8 of these infants having SCID. Partial startup funds were authorized and Michigan is in a unique position to provide important contributions to SCID screening and public health. Significant improvements will be made to established TREC methods to reduce labor and supply costs which are a critical barrier to nationwide implementation. Utilization of automation and improved DNA isolation techniques will allow single sample preparation for molecular based methods, a redesign of the assay configuration and multiplexing of DNA based markers. A second barrier to successful SCID screening will also be removed by training laboratory scientists, physicians and others in the public health community whose support is critical for implementation of this new test on a statewide and national basis. Six MI-NBS laboratory staff will acquire expertise in SCID screening. Michigan will also host 4 laboratory scientists from other NBS programs, and offer 4-week student internships, building on a partnership with Michigan State University. Education for six target populations, including families and healthcare providers, will foster integration of SCID screening into standards of care. Data collection tools, performance metrics and related epidemiological studies will be developed. Sharing of data will contribute to evidence based laboratory protocols and follow-up strategies;reduce false positive screening results;and facilitate the ability of other NBS programs to offer SCID screening. Four specific aims for the project have been identified, including: (1) provide screening for SCID and related disorders for Michigan newborns using T cell receptor excision circles (TREC) analysis and to optimize testing methodology;(2) expand the number of laboratory staff with expertise in SCID screening and other molecular screening methods;(3) provide the necessary training for the public health community about SCID screening;and (4) work cooperatively with the Newborn Screening community to share appropriate laboratory and follow-up data, methods and protocols with CDC, HRSA, NNSIS and other interested partners. PUBLIC HEALTH RELEVANCE: Technology Enhancement and Implementation of Michigan Newborn Screening for Severe Combined Immune Deficiency (SCID) and Related Disorders The proposed research is relevant to public health because it aims to reduce infant morbidity and mortality through improved newborn screening technology for Severe Combined Immune Deficiency (SCID) and related disorders. SCID is a pediatric emergency but early detection and treatment improve survival, consistent with "Healthy People 2020" objectives to reduce infant and child deaths. The full benefits of nationwide newborn screening for SCID will be realized as the cost of testing is reduced, more laboratory scientists are trained to perform the test, and the public health community is educated to create a comprehensive screening, follow-up and treatment program.